Prenatal diagnosis of Wolf-Hirshhorn syndrome – case report


Wolf-Hirschhorn syndrome (WHS, MIM 194190) is caused by the loss of the genetic material of the distal segment of chromosome 4p. We present a case of the fetus diagnosed in the second trimester of pregnancy by genetic amniocentesis which was prompted by abnormalities detected on ultrasound.

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  • 1. Zespół Wolfa-Hirschhorna- opis przypadku. Foryś S, Chilarska T, Piotrowicz M, Jakubowski L, Respondek-Liberska. Ultrasonografia w Ginekologii i Położnictwie 2005; 1; 3: 218-222

  • 2. Prenatal diagnosis of monosomy 4p14-->pter and trisomy 11q25-->qter: clinical presentations and outcomes. Peng HH, Wang TH, Chao AS, Chang YL, Chang SD, Soong YK. Prenat Diagn. 2005 Dec;25(12):1133-7.

  • 3. A Case of Wolf-Hirschhorn Syndrome and Hypoplastic Left Heart Syndrome. von Elten K, Sawyer T, Lentz-Kapua S, Kanis A, Studer M. Pediatr Cardiol. 2012 May 26

  • 4. Fine-grained facial phenotype-genotype analysis in Wolf- Hirschhorn syndrome. Hammond P, Hannes F, Suttie M, Devriendt K, Vermeesch JR, Faravelli F, Forzano F, Parekh S, Williams S, McMullan D, South ST, Carey JC, Quarrell O. Eur J Hum Genet. 2012 Jan;20(1):33-40. doi: 10.1038/ejhg.2011.135. Epub 2011 Jul 27.)

  • 5. Congenital diaphragmatic hernia and a complex heart defect in association with Wolf-Hirschhorn syndrome. Tautz J, Veenma D, Eussen B, Joosen L, Poddighe P, Tibboel D, de Klein A, Schaible T. Am J Med Genet A. 2010 Nov;152A(11):2891-4

  • 6. Prenatal 3-dimensional sonographic depiction of the Wolf- Hirschhorn phenotype: the “Greek warrior helmet” and “tulip” signs. Sepulveda W. J Ultrasound Med. 2007 Mar;26(3):407-10

  • 7. Ocular findings in a 4 p- deletion syndrome (Wolf- Hirschhorn). Mayer UM, Bialasiewicz AA. Ophthalmic Paediatr Genet. 1989 Mar;10(1):69-72.

  • 8. Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome. Donnai D. Am J Med Genet. 1996 Dec 2;66(1):101-3

  • 9. Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion. Wieczorek D, Krause M, Majewski F, Albrecht B, Horn D, Riess O, Gillessen-Kaesbach G. Eur J Hum Genet. 2000 Jul;8(7):519-26.


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